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Gene: Kdm8 MGI:1924285

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Gene Summary

Name:
lysine (K)-specific demethylase 8
Synonyms:
Jmjd5,  3110005O21Rik

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Kdm8tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased circulating potassium level Kdm8tm1a(EUCOMM)Wtsi HET Early adult 2.77×10-07
abnormal coat/ hair morphology Kdm8tm1a(EUCOMM)Wtsi HET   Early adult 2.79×10-05
mydriasis Kdm8tm1b(EUCOMM)Wtsi HET   Early adult 1.67×10-05
corneal vascularization Kdm8tm1b(EUCOMM)Wtsi HET   Early adult 7.11×10-05
cataract Kdm8tm1b(EUCOMM)Wtsi HET   Early adult 3.42×10-05
preweaning lethality, complete penetrance Kdm8tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased body weight Kdm8tm1a(EUCOMM)Wtsi HET   Early adult 1.57×10-05
abnormal iris pigmentation Kdm8tm1a(EUCOMM)Wtsi HET Early adult 2.79×10-05
abnormal optic disk morphology Kdm8tm1b(EUCOMM)Wtsi HET Early adult 8.96×10-05
abnormal lens morphology Kdm8tm1b(EUCOMM)Wtsi HET   Early adult 4.07×10-05
abnormal behavior Kdm8tm1b(EUCOMM)Wtsi HET   Early adult 1.20×10-05
fused cornea and lens Kdm8tm1b(EUCOMM)Wtsi HET   Early adult 1.77×10-05
abnormal behavior Kdm8tm1a(EUCOMM)Wtsi HET Early adult 5.48×10-07
abnormal retina blood vessel morphology Kdm8tm1b(EUCOMM)Wtsi HET Early adult 1.42×10-05
abnormal retina vasculature morphology Kdm8tm1b(EUCOMM)Wtsi HET Early adult 5.11×10-05
increased IgE level Kdm8tm1a(EUCOMM)Wtsi HET Early adult 7.10×10-06
impaired pupillary reflex Kdm8tm1b(EUCOMM)Wtsi HET   Early adult 1.83×10-05
embryonic lethality prior to tooth bud stage Kdm8tm1b(EUCOMM)Wtsi HOM   E12.5 0.00
iris synechia Kdm8tm1b(EUCOMM)Wtsi HET   Early adult 2.27×10-05
abnormal response to tactile stimuli Kdm8tm1a(EUCOMM)Wtsi HET Early adult 3.53×10-07
abnormal iris morphology Kdm8tm1b(EUCOMM)Wtsi HET   Early adult 2.04×10-05

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (4 of 4)
Brainstem  Wholemount images heterozygote 100% (4 of 4)
Cartilage tissue  Wholemount images heterozygote 100% (4 of 4)
Cerebellum  Wholemount images heterozygote 100% (4 of 4)
Cerebral cortex  Wholemount images heterozygote 100% (4 of 4)
Hippocampus  Wholemount images heterozygote 100% (4 of 4)
Hypothalamus  Wholemount images heterozygote 100% (4 of 4)
Kidney  Wholemount images heterozygote 100% (4 of 4)
Olfactory lobe  Wholemount images heterozygote 75% (3 of 4)
Peripheral nervous system  Wholemount images heterozygote 100% (4 of 4)
Spinal cord  Wholemount images heterozygote 100% (4 of 4)
Striatum  Wholemount images heterozygote 100% (4 of 4)
Testis  Wholemount images heterozygote 50% (2 of 4)
Trachea  Wholemount images heterozygote 100% (4 of 4)
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Aorta N/A heterozygote 0.0% (0 of 4)
Bone N/A heterozygote 0.0% (0 of 4)
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Esophagus N/A heterozygote 0.0% (0 of 4)
Eye N/A heterozygote 0.0% (0 of 4)
Gall bladder N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote 0.0% (0 of 4)
Large intestine N/A heterozygote 0.0% (0 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote 0.0% (0 of 4)
Lung N/A heterozygote 0.0% (0 of 4)
Lymph node N/A heterozygote 0.0% (0 of 4)
Mammary gland N/A heterozygote 0.0% (0 of 4)
Oral epithelium N/A heterozygote 0.0% (0 of 4)
Ovary N/A heterozygote 0.0% (0 of 4)
Oviduct N/A heterozygote 0.0% (0 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Peyer's patch N/A heterozygote 0.0% (0 of 4)
Pituitary gland N/A heterozygote 0.0% (0 of 4)
Prostate gland N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote 0.0% (0 of 4)
Skin N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote 0.0% (0 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Stomach N/A heterozygote 0.0% (0 of 4)
Thymus N/A heterozygote 0.0% (0 of 4)
Thyroid gland N/A heterozygote 0.0% (0 of 4)
Uterus N/A heterozygote 0.0% (0 of 4)
Vascular system N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A heterozygote 0.0% (0 of 4)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 50% (1 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 50% (1 of 2)
Handplate N/A heterozygote 50% (1 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Hindbrain N/A heterozygote 50% (1 of 2)
Hindlimb N/A heterozygote 50% (1 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 50% (1 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 50% (1 of 2)
Tail somite N/A heterozygote 50% (1 of 2)
Tail N/A heterozygote 50% (1 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 575)
aorta 0.0%
bone 0.0%
brain 0.87% (5 of 577)
brainstem 0.35% (2 of 579)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 579)
cerebellum 0.52% (3 of 581)
cerebral cortex 0.35% (2 of 574)
esophagus 1.73% (7 of 404)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 571)
hippocampus 0.34% (2 of 586)
hypothalamus 0.35% (2 of 577)
kidney 4.66% (27 of 580)
large intestine 5.15% (30 of 583)
liver 0.0%
lower urinary tract 0.17% (1 of 583)
lung 0.34% (2 of 588)
lymph node 0.17% (1 of 587)
mammary gland 0.0%
olfactory lobe 0.17% (1 of 579)
oral epithelium 0.0%
ovary 0.17% (1 of 576)
oviduct 0.0%
pancreas 0.87% (5 of 578)
parathyroid gland 0.18% (1 of 558)
peripheral nervous system 0.34% (2 of 580)
peyers patch 0.0%
pituitary gland 0.17% (1 of 576)
prostate gland 1.89% (11 of 583)
skeletal muscle 0.0%
skin 0.17% (1 of 577)
small intestine 5.34% (31 of 581)
spinal cord 0.52% (3 of 576)
spleen 0.52% (3 of 581)
stomach 3.61% (21 of 582)
striatum 0.52% (3 of 582)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 582)
thyroid gland 3.1% (18 of 581)
trachea 0.34% (2 of 589)
uterus 0.35% (2 of 579)
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.17% (6 of 511)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Echo

M-Mode Images

68 Images

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X-ray

XRay Images Forepaw

15 Images

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Adult LacZ

LacZ Images Wholemount

9 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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Download thumbnail Download
OPT E9.5

Embryo reconstruction

7 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

29 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

29 Images

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Embryo LacZ

LacZ images wholemount

4 Images

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X-ray

XRay Images Hind Leg and Hip

1 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

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Human diseases caused by Kdm8 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Kdm8 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Exfoliation Syndrome
Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm... OMIM:177650
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Autosomal Dominant Keratitis
Cataract, Hypoplasia of the fovea, Hypoplastic iris stroma, Limbal stem cell deficiency, Abnormal... ORPHA:2334
Cataract 50 With Or Without Glaucoma
Cataract, Retinal detachment, Persistent pupillary membrane OMIM:620253
Uveal Melanoma
Zonular cataract, Mydriasis, Ciliary body melanoma, Iris melanoma, Retinal detachment, Vitreous h... ORPHA:39044
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic atrophy, Optic disc pallor, Tremor OMIM:165300
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Iris cyst, Hypoplasia of the fovea, Optic atrophy OMIM:620086
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Anterior Segment Dysgenesis 8
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... OMIM:617319
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy OMIM:616722
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Microphthalmia, Isolated, With Coloboma 10
Optic pit, Chorioretinal coloboma, Iris coloboma, Microcoria OMIM:616428
Megalocornea
Cataract, Megalocornea, Astigmatism, Iridodonesis, Mosaic corneal dystrophy, Retinal detachment, ... OMIM:309300
Wagner Vitreoretinopathy
Cataract, Optically empty vitreous, Vitreoretinopathy, Peripheral tractional retinal detachment, ... OMIM:143200
Aniridia 1
Cataract, Ectopia pupillae, Hypoplasia of the fovea, Ectopia lentis, Retinal vascular tortuosity,... OMIM:106210
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Coats Disease
Cataract, Abnormal macular morphology, Abnormal retinal vascular morphology, Retinal detachment, ... ORPHA:190
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Corneal opacity, Developmental glaucoma, Abnormal De... OMIM:617315
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Non Rare In Europe: Idiopathic Anterior Uveitis
Miosis, Posterior synechiae of the anterior chamber, Increased cup-to-disc ratio, Nuclear catarac... ORPHA:280914
Bardet-Biedl Syndrome 18
Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Ectopia Lentis Et Pupillae
Cataract, Ectopia pupillae, Ectopia lentis, Retinal detachment, Persistent pupillary membrane, Ir... OMIM:225200
Spastic Ataxia-Corneal Dystrophy Syndrome
Developmental cataract, Optic atrophy, Corneal dystrophy ORPHA:2572
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... OMIM:613801
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Scle... OMIM:604229
Glaucoma 3, Primary Congenital, E
Megalocornea, Corneal stromal edema, Increased cup-to-disc ratio OMIM:617272
Limbal Stem Cell Deficiency
Corneal perforation, Blepharospasm, Opacification of the corneal epithelium, Corneal scarring, Co... ORPHA:171673
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract, Arrhythmia, Sudden cardiac death OMIM:212500
Intermediate Uveitis
Cataract, Vitreous floaters, Vasculitis, Optic neuritis, Vitreous haze, Vitreous snowballs, Epire... ORPHA:279914
Central Retinal Vein Occlusion
Retinal vascular tortuosity, Papilledema, Macular degeneration, Pigmentary retinopathy, Cystoid m... ORPHA:411527
Nathalie Syndrome
Cataract, Arrhythmia ORPHA:2663
Vernal Keratoconjunctivitis
Abnormal conjunctiva morphology, Corneal neovascularization, Abnormal cornea morphology, Punctate... ORPHA:70476
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Birdshot Chorioretinopathy
Cataract, Vitreous floaters, Macular scar, Abnormal retinal vascular morphology, Epiretinal membr... ORPHA:179
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio OMIM:618880
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Microphthalmia, Isolated, With Cataract 1
Cataract, Miosis OMIM:156850
Cone-Rod Dystrophy 16
Cataract, Macular atrophy, Beaten bronze macular sheen, Cone/cone-rod dystrophy, Optic disc pallo... OMIM:614500
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hypertrophic cardiomyopathy ORPHA:79281
Aniridia 2
Cataract, Iris coloboma, Lens subluxation, Aniridia, Optic atrophy OMIM:617141
Spastic Paraparesis And Deafness
Cataract, Tremor OMIM:312910
Cataract 42
Cataract, Developmental cataract OMIM:115900
Acute Zonal Occult Outer Retinopathy
Abnormal fundus fluorescein angiography, Macular drusen, Abnormal retinal vascular morphology, Pi... ORPHA:284454
Idiopathic Panuveitis
Cataract, Vitreous floaters, Vitreous snowballs, Epiretinal membrane, Cystoid macular edema, Conj... ORPHA:280921
Corneal Dystrophy, Groenouw Type I
Cataract, Granular corneal dystrophy, Punctate corneal dystrophy, Nodular corneal dystrophy OMIM:121900
Tietz Albinism-Deafness Syndrome
Blue irides, Generalized hypopigmentation, White eyelashes, White eyebrow, Heterochromia iridis OMIM:103500
Waardenburg Syndrome, Type 2F
Blue irides, Hypermelanotic macule, Premature graying of hair, Cafe-au-lait spot, White hair, Hyp... OMIM:619947
Retinitis Pigmentosa 9
Cataract, Macular atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular e... OMIM:180104
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Iris coloboma, Uveitis, Buphthalmos, Persistent pupillary membrane, Shallow anterior ch... OMIM:221900
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Optic nerve dysplasia, Progressive cataract OMIM:246000
Stickler Syndrome Type 2
Cataract, Retinal detachment, Abnormal vitreous humor morphology, Corneal opacity, Retinopathy ORPHA:90654
Cataract 21, Multiple Types
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Retinal detachment, Corneal opac... OMIM:610202
Retinitis Pigmentosa 84
Cataract, Macular atrophy, Macular coloboma, Bone spicule pigmentation of the retina, Attenuation... OMIM:618220
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of th... OMIM:611040
Trichomegaly
Cataract OMIM:190330
Cataract-Microcornea Syndrome
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea ORPHA:1377
Familial Exudative Vitreoretinopathy
Cataract, Peripheral retinal avascularization, Vitreous floaters, Abnormal optic disc morphology,... ORPHA:891
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormal macular morphology, Granular macular appearance, Rhegmatogenous retinal detachment, Reti... ORPHA:364055
Anterior Segment Dysgenesis 7
Cataract, Iris coloboma, Buphthalmos, Anterior synechiae of the anterior chamber, Sclerocornea, C... OMIM:269400
Peters Anomaly
Subcapsular cataract, Thinning of Descemet membrane, Anterior synechiae of the anterior chamber, ... ORPHA:708
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Vitreous floaters, Peripheral vitreoretinal degeneration, Retinal detachment, Lattice r... OMIM:614292
Leber Congenital Amaurosis 2
Cataract, Pigmentary retinopathy, Optic disc pallor, Fundus atrophy, Keratoconus, Attenuation of ... OMIM:204100
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Iris coloboma, Retinal detachment, Optic atrophy, Chorioretinal coloboma, Corneal opaci... ORPHA:1473
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation OMIM:126070
Anterior Segment Dysgenesis 2
Cataract, Congenital aphakia, Anterior segment of eye aplasia, Posterior synechiae of the anterio... OMIM:610256
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Leber Congenital Amaurosis 4
Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Attenuation of retinal ... OMIM:604393
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy, Congenital miosis OMIM:108650
Posterior Polymorphous Corneal Dystrophy
Ectopia pupillae, Astigmatism, Anterior synechiae of the anterior chamber, Corneal stromal edema,... ORPHA:98973
Woolly Hair
Cataract, Abnormal pupil morphology, Abnormal retinal morphology ORPHA:170
Retinitis Pigmentosa 4
Cataract, Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Atten... OMIM:613731
Anterior Segment Dysgenesis 3
Ectopia pupillae, Abnormal iris vasculature, Hypoplastic iris stroma, Posterior embryotoxon, Axen... OMIM:601631
Waardenburg Syndrome, Type 2B
White forelock, Premature graying of hair, Heterochromia iridis OMIM:600193
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Vitreoretinal Degeneration, Snowflake Type
Cataract, Snowflake vitreoretinal degeneration, Corneal guttata, Optically empty vitreous, Retina... OMIM:193230
Exudative Vitreoretinopathy 1
Subcapsular cataract, Peripheral retinal avascularization, Vitreous floaters, Retinal exudate, Re... OMIM:133780
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia, Optic nerve hypoplasia ORPHA:1068
Exudative Vitreoretinopathy 2, X-Linked
Peripheral retinal avascularization, Subretinal exudate, Retinal vascular tortuosity, Retinal det... OMIM:305390
Optic Atrophy 2
Tremor, Optic atrophy OMIM:311050
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Rod-cone dystrophy, Microcornea OMIM:619082
Phacoanaphylactic Uveitis
Vitreoretinopathy, Abnormal corneal endothelium morphology, Tractional retinal detachment, Retina... ORPHA:209959
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris ORPHA:1067
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Chorioretinal coloboma ORPHA:2732
Microphthalmia, Isolated, With Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma OMIM:614497
Norrie Disease
Cataract, Retinal detachment, Optic atrophy, Buphthalmos, Shallow anterior chamber, Hypoplasia of... OMIM:310600
Oculoauricular Syndrome
Cataract, Iris cyst, Rod-cone dystrophy, Iris coloboma, Cone/cone-rod dystrophy, Morning glory an... OMIM:612109
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Chorioretinal coloboma, Iris coloboma OMIM:120433
Iridocorneal Endothelial Syndrome
Ectopia pupillae, Abnormal migration of corneal endothelium, Central heterochromia, Hypoplastic i... ORPHA:64734
Galactosemia Iv
Cataract OMIM:618881
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis, Motor axonal neuropathy ORPHA:247815
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Increased circulating interleukin 6 concentration, Increased cir... OMIM:618944
Retinitis Pigmentosa 36
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:610599
Retinal Dystrophy And Obesity
Peripapillary atrophy, Astigmatism, Retinal detachment, Retinal dots, Retinal pigment epithelial ... OMIM:616188
Retinitis Pigmentosa 13
Subcapsular cataract, Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degen... OMIM:600059
Myopia 28, Autosomal Recessive
Cataract, Retinal detachment OMIM:619781
Retinitis Pigmentosa 30
Chorioretinal atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vess... OMIM:607921
Weill-Marchesani Syndrome 4
Phakodonesis, Ectopia lentis, Iridodonesis, Shallow anterior chamber, Posterior synechiae of the ... OMIM:613195
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Iatrogenic Botulism
Mydriasis, Orthostatic hypotension ORPHA:254509
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Chorioretinal dysplasia, Retinal detachment, Optic disc pallor, Abnormality of retinal ... OMIM:251270
Intestinal Botulism
Mydriasis ORPHA:178481
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Retinitis Pigmentosa 86
Cortical cataract, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:618613
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Decreased circulating IgA level, Decreased circulating Ig... OMIM:606843
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Cataract 9, Multiple Types
Cataract, Iris coloboma, Developmental cataract, Progressive cataract, Microcornea OMIM:604219
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Premature graying of hair, Heterochromia iridis ORPHA:66633
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Chorioretinal hypopigmentation, Iris transillumination defect, Hypopigm... OMIM:619165
Dysequilibrium Syndrome
Cataract ORPHA:1766
Retinitis Pigmentosa 46
Pigmentary retinopathy, Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrop... OMIM:612572
Hec Syndrome
Abnormal retinal vascular morphology, Arrhythmia, Abnormal pupil morphology, Cardiomyopathy, Deve... ORPHA:2119
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Waardenburg Syndrome, Type 4B
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... OMIM:613265
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Corneal Dystrophy, Posterior Polymorphous, 1
Ectopia pupillae, Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology,... OMIM:122000
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Eales Disease
Subhyaloid hemorrhage, Vitreous floaters, Vitreous haze, Rhegmatogenous retinal detachment, Iris ... ORPHA:40923
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Isolated Aniridia
Cataract, Aniridia, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Yemenite Deaf-Blind Hypopigmentation Syndrome
Microcornea, Chorioretinal coloboma, Iris coloboma OMIM:601706
Galactosemia Ii
Cataract OMIM:230200
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Cataract, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal ... OMIM:616108
Wound Botulism
Cardiac arrest, Mydriasis ORPHA:178475
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of hair, Albinism OMIM:606574
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology, Decreased nerve conduction velocity, Peripheral axonal neuropathy, Per... ORPHA:101082
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Cerulean cataract, Optic disc pallor OMIM:616732
Adult-Onset Foveomacular Vitelliform Dystrophy
Choroideremia, Iris hypopigmentation, Retinal nonattachment, Vitelliform-like macular lesions ORPHA:99000
Oculocutaneous Albinism Type 6
Abnormal fundus morphology, Abnormal foveal morphology on macular OCT, Abnormal iris pigmentation... ORPHA:370097
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Abnormal macular morphology, Iris hypopigmentation, Astigmatism, Abnorma... ORPHA:54
Chromosome 16Q12 Duplication Syndrome
Cataract, Anisocoria, Retinal pigment epithelial mottling, Temporal optic disc pallor OMIM:619649
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c... OMIM:614195
Morning Glory Disc Anomaly
Cataract, Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Pulverulent cataract, Pigmentary retinopathy, Retinal ... OMIM:193220
Obsolete: Isolated Optic Nerve Hypoplasia/Aplasia
Optic disc hypoplasia, Peripheral vitreous opacities, Optic nerve hypoplasia, Chorioretinal colob... ORPHA:137902
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Abnormal corneal endothelium morphology, Abnormal anterior chamber morph... ORPHA:69736
Coats Disease
Retinal telangiectasia, Exudative retinal detachment, Leukocoria OMIM:300216
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Macular atrophy, Iris coloboma, Corneal scarring, Retinal detachment, Buphthalmos, Mios... OMIM:212550
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Juvenile Glaucoma
Temporal optic disc pallor, Retinal arterial occlusion, Optic neuropathy, Abnormal anterior chamb... ORPHA:98977
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratoconjunctivitis sicca, Conjunctivitis, Telangiectasia, Keratitis, Corneal neovascu... OMIM:278730
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Atopic Keratoconjunctivitis
Chemosis, Keratoconjunctivitis sicca, Corneal opacity, Keratitis, Corneal neovascularization ORPHA:163934
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Astigmatism, Retinal detachment, Optic disc pallor, Abnormality of macul... OMIM:300476
Leber Congenital Amaurosis 8
Cataract, Pigmentary retinopathy, Macular coloboma, Keratoconus, Choriocapillaris atrophy, Nummul... OMIM:613835
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Optic Atrophy 9
Optic atrophy, Optic disc pallor OMIM:616289
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy OMIM:610156
Morm Syndrome
Cataract, Retinal dystrophy, Retinal atrophy ORPHA:75858
Amoebic Keratitis
Cataract, Corneal perforation, Corneal ulceration, Abnormal corneal epithelium morphology, Puncta... ORPHA:67043
Nathalie Syndrome
Cataract, Abnormal EKG OMIM:255990
Retinitis Pigmentosa 10
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re... OMIM:180105
Oliver-Mcfarlane Syndrome
Small for gestational age, Long eyelashes, Central heterochromia, Pigmentary retinopathy, Alopeci... OMIM:275400
Retinitis Pigmentosa 25
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re... OMIM:602772
Spastic Paraparesis-Deafness Syndrome
Cataract ORPHA:2815
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Failure to thrive OMIM:615767
Inhalational Botulism
Mydriasis ORPHA:254504
Stickler Syndrome, Type V
Cataract, Vitreoretinopathy, Retinal detachment OMIM:614284
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Concentric hypertrophic cardiomyopathy, Macular degeneration, Retinal degeneration, Opt... OMIM:204200
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Leber Congenital Amaurosis 1
Cataract, Pigmentary retinopathy, Fundus atrophy, Keratoconus, Attenuation of retinal blood vesse... OMIM:204000
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Macular atrophy, Optic disc pallor, Retinopathy, Optic atrophy, Microcornea OMIM:616171
Botulism
Mydriasis, Arrhythmia ORPHA:1267
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Increased circulating IgE level, Failure to thrive in infancy, Increas... OMIM:617241
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the ... OMIM:618195
Autosomal Recessive Spastic Paraplegia Type 69
Cataract, Hand tremor ORPHA:401830
Infant Botulism
Cardiac arrest, Mydriasis, Hypotension, Keratoconjunctivitis sicca, Hypertension ORPHA:178478
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Chorioretinal coloboma ORPHA:2489
Coloboma, Ocular, Autosomal Recessive
Cataract, Iris coloboma, Lens subluxation, Optic disc coloboma, Retinal coloboma OMIM:216820
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Iris coloboma, Peripheral retinal atrophy, Absent foveal reflex, Microcornea, Retinal dystrophy OMIM:615147
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Iris coloboma, Chorioretinal coloboma, Posterior lenticonus, Remnants of the hyaloid vascular sys... ORPHA:231736
Foodborne Botulism
Mydriasis, Arrhythmia ORPHA:228371
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Macular atrophy, Peripapillary atrophy, Drusen, Epiretinal membra... ORPHA:67042
Palmoplantar Carcinoma, Multiple Self-Healing
Limbal stem cell deficiency, Corneal neovascularization OMIM:615225
Multisystemic Smooth Muscle Dysfunction Syndrome
Mydriasis, Retinal infarction, Hypertension, Pulmonary arterial hypertension OMIM:613834
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Pigmentary retinopathy, Posterior synechiae of the anterior chamber, Retinal dysplasia, Developme... OMIM:613154
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Optic atrophy, Sensory axonal neuropathy ORPHA:329314
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Ectopia pupillae, Retinal hemorrhage, Limb dystonia, Peripapillary atrophy, Hypopigmentation of t... OMIM:175780
Retinitis Pigmentosa 56
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigme... OMIM:613581
Serotonin Syndrome
Mydriasis, Hypotension, Hypertension, Tremor, Tachycardia, Abnormality of the autonomic nervous s... ORPHA:43116
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, Obesity ORPHA:177910
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Cherubism
Optic neuropathy, Marcus Gunn pupil, Macular scar OMIM:118400
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Increased circulating antibody level OMIM:235900
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Uveitis, Retinal detachment, Peripheral ... OMIM:193235
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Intellectual Developmental Disorder, Autosomal Recessive 50
Heterochromia iridis OMIM:616460
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Autoinflammation With Arthritis And Dyskeratosis
Uveitis, Keratoconjunctivitis sicca, Corneal neovascularization, Punctate keratitis OMIM:617388
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... OMIM:600132
Leber Congenital Amaurosis 9
Macular atrophy, Retinal pigment epithelial mottling, Optic disc pallor, Macular coloboma, Kerato... OMIM:608553
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Hyperchlorhidrosis, Isolated
Hyponatremia, Failure to thrive, Hyperkalemia OMIM:143860
Exudative Vitreoretinopathy 6
Cataract, Retinal exudate, Cortical cataract, Retinal detachment, Tractional retinal detachment, ... OMIM:616468
Retinitis Pigmentosa 2
Cataract, Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Bull's eye maculopathy, Cho... OMIM:312600
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology, Coloboma ORPHA:1617
Waardenburg Syndrome, Type 4A
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... OMIM:277580
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Miosis, Microcoria OMIM:156600
Woolly Hair Nevus
Woolly scalp hair, Congenital posterior occipital alopecia, Patchy hypopigmentation of hair, Curl... ORPHA:79414
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Persistent Hyperplastic Primary Vitreous
Cataract, Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Buphthalm... ORPHA:91495
Cutis Marmorata Telangiectatica Congenita
Telangiectasia, Retinal detachment, Hypertension, Leukocoria OMIM:219250
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Immunodeficiency 25
Increased circulating IgA level, Decreased circulating IgG2 level, Increased circulating IgE leve... OMIM:610163
Retinitis Pigmentosa 43
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation o... OMIM:613810
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy, Iris coloboma, Shallow anterior chamber, Chorioretinal coloboma, Flat cornea, Mi... OMIM:602499
Exudative Vitreoretinopathy 4
Subcapsular cataract, Peripheral retinal avascularization, Retinal exudate, Tractional retinal de... OMIM:601813
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Retinitis Pigmentosa 72
Peripapillary atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of... OMIM:616469
Griscelli Syndrome Type 1
Iris hypopigmentation, Premature graying of hair, White hair, Hyperlipidemia, Partial albinism ORPHA:79476
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Retinitis Pigmentosa 71
Optic disc pallor, Attenuation of retinal blood vessels, Perifoveal ring of hyperautofluorescence... OMIM:616394
Corneal Dystrophy, Posterior Polymorphous, 3
Ectopia pupillae, Corneal guttata, Keratoconus, Corneal dystrophy OMIM:609141
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Maternally-Inherited Diabetes And Deafness
Cataract, Arrhythmia, Hypertension, Congestive heart failure, Macular dystrophy, Hypertrophic car... ORPHA:225
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Waardenburg Syndrome, Type 2A
Synophrys, Premature graying of hair, Hypoplastic iris stroma, Albinism, Numerous pigmented freck... OMIM:193510
Methionine Malabsorption Syndrome
Blue irides, Positive ferric chloride test, White hair OMIM:250900
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Klippel-Feil Syndrome 3, Autosomal Dominant
Chorioretinal coloboma, Iris coloboma OMIM:613702
Intracranial Hypertension, Idiopathic
Papilledema, Hypertension OMIM:243200
Hypotrichosis Simplex Of The Scalp
Abnormal eyelash morphology, Abnormality of the axillary hair, Abnormal eyebrow morphology, Fine ... ORPHA:90368
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level, Long eyelashes, Failure to thrive OMIM:616069
Mucolipidosis Iv
Retinal degeneration, Corneal opacity, Opacification of the corneal stroma, Optic atrophy, Dystonia OMIM:252650
Oculocutaneous Albinism Type 1
Blue irides, Iris hypopigmentation, Generalized hypopigmentation, Iris transillumination defect, ... ORPHA:352731
Senior-Loken Syndrome
Cataract, Hypertension, Retinal dystrophy, Abnormality of retinal pigmentation ORPHA:3156
Isolated Ectopia Lentis
Cataract, Hypertension, Ectopia pupillae, Ectopia lentis ORPHA:1885
Horner Syndrome, Congenital
Heterochromia iridis OMIM:143000
Severe Combined Immunodeficiency, X-Linked
Decreased circulating total IgM, Decreased circulating IgA level, Reduced natural killer cell act... OMIM:300400
Retinitis Pigmentosa 66
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy, Posterior subcaps... OMIM:615233
Axenfeld-Rieger Syndrome, Type 3
Ectopia pupillae, Hypoplasia of the iris, Posterior embryotoxon, Posterior synechiae of the anter... OMIM:602482
Osteopetrosis, Autosomal Recessive 5
Mydriasis, Optic atrophy, Optic disc pallor, Facial palsy OMIM:259720
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... OMIM:613983
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Retinal detachment, Abnormality of retinal pigmentation, Microphakia, Lens subluxation ORPHA:171844
Immunodeficiency 89 And Autoimmunity
Increased circulating IgA level, Increased circulating IgE level, Reduced circulating interleukin... OMIM:619632
3-Methylglutaconic Aciduria Type 4
Cataract, Iris hypopigmentation, Failure to thrive ORPHA:67048
Microphthalmia, Syndromic 13
Microcornea, Chorioretinal coloboma, Iris coloboma OMIM:300915
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Decreased serum iron OMIM:212050
Infantile Spasms-Broad Thumbs Syndrome
Cataract, Optic disc pallor, Hypertrophic cardiomyopathy ORPHA:3173
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Ectopia lentis, Iris coloboma, Abnormality of retinal pigmentation ORPHA:1259
Wildervanck Syndrome
Facial palsy, Lens subluxation, Pseudopapilledema ORPHA:3456
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Retinitis Pigmentosa 57
Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of... OMIM:613582
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Mucoepithelial Dysplasia, Hereditary
Cataract, Keratoconjunctivitis, Melena, Opacification of the corneal stroma, Corneal neovasculari... OMIM:158310
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Phenylketonuria
Blue irides, Cataract, Hyperphenylalaninemia, Maternal hyperphenylalaninemia, Generalized hypopig... OMIM:261600
Cataract 48
Cataract, Miosis OMIM:618415
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Obesity OMIM:615990
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Subcapsular cataract, Decreased nerve conduction velocity, Intention tremor, Optic atro... OMIM:612674
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract OMIM:609115
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgG level, Increased circulating IgE level OMIM:618982
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Leber Hereditary Optic Neuropathy
Retinal vascular tortuosity, Retinal telangiectasia, Arrhythmia, Postural tremor, Ventricular pre... ORPHA:104
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Hyperkalemia OMIM:609153
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Pigmentary retinopathy, Tremor, Intention tremor, Rod-cone dystrophy OMIM:614307
Albinism, Oculocutaneous, Type Ii
Blue irides, Freckles in sun-exposed areas, Albinism, Hypopigmentation of the skin, Hypopigmentat... OMIM:203200
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... OMIM:610359
Developmental And Epileptic Encephalopathy 35
Cataract, Limb tremor, Cardiomyopathy OMIM:616647
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, Obesity ORPHA:411515
Progressive Hemifacial Atrophy
Irregular hyperpigmentation, Heterochromia iridis ORPHA:1214
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmentation of the retina, ... OMIM:618889
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Cataract 47
Cataract, Microcornea OMIM:612018
Xeroderma Pigmentosum, Complementation Group G
Cataract, Tremor OMIM:278780
Congenital Hydrocephalus
Optic atrophy, Iris coloboma, Macular hypoplasia ORPHA:2185
Retinitis Pigmentosa 77
Retinal atrophy, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of r... OMIM:617304
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Increased circulating IgE level, Lack of T cell function, Failur... ORPHA:277
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Macular atrophy, Optic disc pallor, Rod-cone dystrophy, Posterior subcapsular cataract OMIM:615434
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Craniotubular Dysplasia, Ikegawa Type
Optic neuropathy, Mydriasis, Optic atrophy, Optic nerve compression OMIM:619727
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Arrhythmia, Abnormal pupil morphology, Prolonged QT interval, Aganglionic megacolon ORPHA:2151
Gyrate Atrophy Of Choroid And Retina
Cataract, Subcapsular cataract, Abnormal macular morphology, Chorioretinal hyperpigmentation, Cho... ORPHA:414
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level, Nail dystrophy ORPHA:89843
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Asteroid hyalosis, Retinal thinning OMIM:132450
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract ORPHA:85288
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Cardiomyopathy, Dilated, 1Ii
Cataract, Ventricular tachycardia, Mitral regurgitation, Moderately reduced left ventricular ejec... OMIM:615184
Retinitis Pigmentosa 83
Vitreous floaters, Cystoid macular edema, Asteroid hyalosis, Bone spicule pigmentation of the ret... OMIM:618173
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract OMIM:300261
Alternating Hemiplegia Of Childhood
Mydriasis, Abnormal T-wave, Arrhythmia, Cardiomyopathy, Abnormal autonomic nervous system physiol... ORPHA:2131
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Cofs Syndrome
Cataract, Optic atrophy, Abnormality of retinal pigmentation ORPHA:1466
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyelash morphology, Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal ey... ORPHA:2885
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Retinitis Pigmentosa
Cataract, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Keratoconus,... ORPHA:791
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Iris coloboma OMIM:611638
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy, Hypertrophic cardiomyopathy ORPHA:1369
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Decreased circulating total IgM OMIM:617638
Retinitis Pigmentosa 62
Optic disc pallor, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Attenuation o... OMIM:614181
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Megalocornea, Iridodonesis, Microspherophakia, Buphthalmos, Deep anterior chamber OMIM:251750
Lissencephaly 5
Cataract, Optic atrophy OMIM:615191
Cocaine Intoxication
Subarachnoid hemorrhage, Mydriasis, Prolonged QRS complex, Diffuse alveolar hemorrhage, Hypotensi... ORPHA:90068
Oculocutaneous Albinism Type 3
Blue irides, Freckling, Iris hypopigmentation, Generalized hypopigmentation of hair, White eyelas... ORPHA:79433
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
Microcornea, Posterior subcapsular cataract, Chorioretinal degeneration OMIM:615458
Igg4-Related Aortitis
Increased circulating IgG4 level, Increased circulating antibody level, Increased circulating IgE... ORPHA:449400
Autosomal Recessive Stickler Syndrome
Cataract, Astigmatism, Vitreoretinopathy, Retinal detachment ORPHA:250984
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cone/cone-rod dystrophy, Corneal scarring, Pigmentary retinopathy, Optic disc pallor, Athetosis, ... ORPHA:404454
Arachnoid Cyst
Subarachnoid hemorrhage, Mydriasis, Cranial nerve compression, Facial palsy ORPHA:2356
Bickerstaff Brainstem Encephalitis
Mydriasis, Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Anisocor... ORPHA:79138
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Optic disc pallor, Retinal pigment epithelial atrophy, Bone... OMIM:617871
Retinitis Pigmentosa 32
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the... OMIM:609913
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Chorioretinal coloboma, Iris coloboma, Retinal coloboma ORPHA:2921
Usher Syndrome Type 3
Cataract, Astigmatism, Iris hypopigmentation ORPHA:231183
Flynn-Aird Syndrome
Cataract, Rod-cone dystrophy OMIM:136300
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, White forelock, ... ORPHA:895
Retinitis Pigmentosa 11
Macular atrophy, Rod-cone dystrophy, Macular degeneration, Optic disc pallor, Bone spicule pigmen... OMIM:600138
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea ORPHA:2528
Kimura Disease
Increased circulating IgE level ORPHA:482
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgA level, Increased circulating antibody level, Increased circulating IgE ... ORPHA:169154
Pituitary Apoplexy
Mydriasis, Hypertension, Hypotension ORPHA:95613
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Astigmatism, Optic atrophy OMIM:248000
Enhanced S-Cone Syndrome
Cataract, Vitreoretinopathy, Pigmentary retinopathy, Retinoschisis, Macular edema OMIM:268100
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... OMIM:605258
Zika Virus Disease
Abnormal optic disc morphology, Macular atrophy, Iris coloboma, Optic disc hypoplasia, Retinal pi... ORPHA:448237
Usher Syndrome, Type Iiib
Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels OMIM:614504
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating total IgM, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Decreased number of large peripheral myelinated nerve fibers, Optic atrophy, Optic disc pallor, P... OMIM:617087
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract OMIM:614876
Cataract 6, Multiple Types
Developmental cataract, Choroideremia, Posterior polar cataract OMIM:116600
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Retinitis Pigmentosa 95
Attenuation of retinal blood vessels, Optic disc pallor, Perifoveal ring of hyperautofluorescence... OMIM:620102
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Optic disc pallor OMIM:613730
Aniridia 3
Cataract, Aniridia OMIM:617142
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Increased circulating IgE level, Keratitis OMIM:618523
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Iris hypopigmentation, Hypertension, Optic disc pallor, Abnorm... ORPHA:97229
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Albinism, White hair, Abnormality of retinal pigmentation, Hypopigmentatio... ORPHA:79435
Retinitis Pigmentosa 70
Macular degeneration, Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:615922
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Scorpion Envenomation
Myocarditis, Mydriasis, Arrhythmia, Hypertension, Prominent U wave, Tremor, Miosis, Premature ven... ORPHA:466677
Spastic Paraplegia 5A, Autosomal Recessive
Cataract, Postural tremor, Optic atrophy OMIM:270800
Pellagra-Like Syndrome
Cataract OMIM:260650
Griscelli Syndrome
Abnormal circulating lipid concentration, Iris hypopigmentation, Abnormal eyelash morphology, Hyp... ORPHA:381
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Microcornea, Anterior synechiae of the anterior chamber, Iris hypopigmentation, Iris coloboma ORPHA:3214
Edinburgh Malformation Syndrome
Brushfield spots, Synophrys, Low posterior hairline, Failure to thrive, Hirsutism, Generalized hi... ORPHA:1895
Albinism, Oculocutaneous, Type Vii
Iris transillumination defect, Albinism OMIM:615179
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy, ... OMIM:613194
Linear Verrucous Nevus Syndrome
Cataract, Iris coloboma, Aplasia/Hypoplasia of the fovea, Abnormal cornea morphology, Retinopathy ORPHA:2611
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Netherton Syndrome
Irregular hyperpigmentation, Trichorrhexis nodosa, Fine hair, Increased circulating IgE level, Sp... ORPHA:634
Retinitis Pigmentosa 74
Pigmentary retinopathy, Optic disc pallor, Posterior polar cataract, Rod-cone dystrophy OMIM:616562
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Morning glory anomaly, Chorioretinal coloboma, Corneal opacity, Optic disc c... OMIM:120200
Congenital Varicella Syndrome
Cataract ORPHA:291
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Supraventricular arrhythmia, Optic atrophy, Peripheral axonal neuropathy, Cardiomyopathy ORPHA:320360
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Chorioretinal dysplasia, Astigmatism, Retinal detachment, Optic atrophy, Chorioretinal ... OMIM:152950
Combined Oxidative Phosphorylation Deficiency 13
Cataract, Decreased nerve conduction velocity, Choreoathetosis, Dystonia OMIM:614932
Oculocutaneous Albinism Type 2
Blue irides, Freckling, Iris hypopigmentation, Iris transillumination defect, White eyebrow, Whit... ORPHA:79432
Netherton Syndrome
Increased circulating IgE level, Brittle hair, Failure to thrive, Sparse eyebrow, Decreased circu... OMIM:256500
Proteus-Like Syndrome
Cataract, Abnormal pupil morphology, Retinal detachment, Limbal dermoid, Heterochromia iridis ORPHA:2969
Leukodystrophy, Hypomyelinating, 22
Astigmatism, Optic disc pallor OMIM:619328
Peeling Skin Syndrome 1
Increased circulating IgE level, Brittle hair, Nail dystrophy OMIM:270300
Congenital Muscular Dystrophy, Fukuyama Type
Cataract, Dilated cardiomyopathy, Optic atrophy, Retinal dysplasia ORPHA:272
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Cataract, Arrhythmia, Hypertension, Pulmonary embolism, Congestive heart failure, Hypertrophic ca... ORPHA:1345
Retinitis Pigmentosa 23
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Absent foveal reflex, R... OMIM:300424
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Large for gestational age, Corneal opacity ORPHA:2432
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor, Generalized dystonia, Peripheral axonal n... OMIM:619389